Modern view on pathogenesis, diagnosis and treatment of Gilbert's syndrome
https://doi.org/10.33667/2078-5631-2022-35-19-22
Abstract
Gilbert’s syndrome is an autosomal recessive inherited disorder of bilirubin glucuronidation characterized by unconjugated hyperbilirubinaemia in the absence of hepatocellular injury or hemolysis. Gilbert’s syndrome is characterized by mutations to the UGT1A1 gene which encodes the enzyme uridine disphosphate glucuronоsyltransferase which is required for the conjugation and subsequent excretion of bilirubin. Most Gilbert’s syndrome patients experience recurrent and short-term episodes of yellowing of the skin and sclera of eyes caused by bilirubin accumulation in the blood. Approximately 30 % of patients with Gilbert's syndrome do not experience any symptoms, but are detected by blood tests that show elevated levels of unconjugated bilirubin. In addition to traditional methods, genetic analysis of the UGT1A1 gene allows us to confirm the diagnosis of Gilbert's syndrome. The article presents modern concepts of the pathogenesis, diagnosis, differential diagnosis and treatment of Gilbert's syndrome. It is of interest to gastroenterologists, internists and general practitioners who treat such patients.
About the Authors
B. N. Levitan
Astrakhan State Medical University
Russian Federation
Russian Federation
Boleslav N. Levitan - DM Sci (habil.), professor, head of Dept of Faculty Therapy and Occupational Diseases with a course of postgraduate education.
Astrakhan
Scopus: 7003706105
V. V. Skvortsov
Volgograd State Medical University
Russian Federation
Russian Federation
Vsevolod V. Skvortsov - DM Sci (habil.), professor at Dept of Internal Diseases.
Volgograd
A. V. Morozov
Volgograd State Medical University
Russian Federation
Russian Federation
Alexander V. Morozov - PhD Agricultural Sci, teacher at Medical College.
Volgograd
T. V. Serdyukova
Astrakhan State Medical University
Russian Federation
Russian Federation
Tatyana V. Serdyukova - PhD Med, associate professor at Dept of Faculty Therapy and Occupational Diseases with a course of postgraduate education.
Astrakhan
References
1. Wagner K. H., Shiels R. G., Lang C. A., Seyed K, N., Bulmer A. C. Diagnostic criteria and contributors to Gilbert’s syndrome. Crit. Rev. Clin. Lab. Sci. 2018; 55: 129–139. https://doi.org/10.1080/10408363.2018.1428526
2. Kamal S., Abdelhakam S., Ghoraba D., Massoud Y., Aziz K. A., Hassan H., Hafez T., Sallam A. A. The frequency, clinical course, and health related quality of life in adults with Gilbert’s syndrome: A longitudinal study. BMC Gastroenterology. 2019; 19: 22. https://doi.org/10.1186/s12876–019–0931–2.
3. Van Wagner L. B., Green R. M. Evaluating Elevated Bilirubin Levels in Asymptomatic Adults. JAMA. 2015; 313 (5): 516–517. https://doi.org/10.1001/jama.2014.12835.
4. Volkov A. N., Tsurkan E. V. UGT1A1 gene mutation as a marker indicating there is a high risk of Gilbert's syndrome: Theoretical and applied aspects. Health Risk Analysis, 2019, No. 2, pp. 123–129. DOI: 10.21668/health.risk/2019.2.14.eng
5. Asfandiyarova N. S., Yakubovskaya A. G. Benign Hyperbilirubinemia of Gilbert Type. Science of the young (Eruditio Juvenium). 2022;10 (1): 75–80. https://doi.org/10.23888/HMJ202210175–80.
6. Wagner K. H., Khoei N. S., Hana C. A., Doberer D., Marculescu R., Bulmer, A.C., Hörmann-Wallner M., Mölzer C. Oxidative Stress and Related Biomarkers in Gilbert’s Syndrome: A Secondary Analysis of Two Case-Control Studies. Antioxidants. 2021; 10: 1474. https://doi.org/10.3390/antiox10091474.
7. Gazzin S., Vitek L., Watchko J., Shapiro S. M., Tiribelli C. A Novel Perspective on the Biology of Bilirubin in Health and Disease. Trends Mol Med. 2016;22 (9): 758–768. DOI: 10.1016/j.molmed.2016.07.004
8. Bulmer A. C., Bakrania B., Du Toit E. F., Boon A. C., Clark P. J., Powell L. W., Wagner K. H., Headrick J. P. Bilirubin acts as a multipotent guardian of cardiovascular integrity: More than just a radical idea. Am J Physiol Heart Circ Physiol. 2018; 315: 429–447. https://doi.org/10.1152/ajpheart.00417.2017.
9. Vítek L., Tiribelli C. Bilirubin: The yellow hormone? J Hepatol. 2021; 75 (6): 1485–1490. DOI: 10.1016/j.jhep.2021.06.010.
10. Horsfall L. J., Nazareth I., Pereira S. P., Petersen I. Gilbert's syndrome and the risk of death: a population-based cohort study. J Gastroenterol Hepatol. 2013; 28 (10): 1643–7. https://doi.org/10.1111/jgh.12279
11. Stender S., Frikke-Schmidt R., Nordestgaard B. G., Tybjærg-Hansen A. Extreme bilirubin levels as a causal risk factor for symptomatic gallstone disease. JAMA Intern Med. 2013; 173 (13): 1222–8. https://doi.org/10.1001/jamainternmed.2013.6465
12. Bale G., Avanthi U. S., Padaki N. R., Sharma M., Duvvur N. R., KanthV. Incidence and Risk of Gallstone Disease in Gilbert's Syndrome Patients in Indian Population. J Clin Exp Hepatol. 2018; 8 (4): 362–366. https://doi.org/10.1016/j.jceh.2017.12.006.
13. Düzenli T., Maden O., Tanoğlu A., Kaplan M., Yazgan Y. Associations between Gilbert’s syndrome and personality characteristics. Trends Psychiatry Psychother. 2021; 43 (2): 151–158. http://dx.doi.org/10.47626/2237–6089–2020–0003.
14. Strauss K. A., Ahlfors C. E., Soltys K., Mazareigos G. V., Young M., Bowser L. E., Fox M. D., Squires J. E., McKiernan P., Brigatti K. W., Puffenberger E. G., Carson V. J., Vreman H. J. Crigler-Najjar Syndrome Type 1: Pathophysiology, Natural History, and Therapeutic Frontier. Hepatology. 2020; 71 (6): 1923–1939. https://doi.org/10.1002/hep.30959.
15. Maruo Y, Nakahara S, Yanagi T, Nomura A, Mimura Y, Matsui K, Sato H, Takeuchi Y. Genotype of UGT1A1 and phenotype correlation between Crigler-Najjar syndrome type II and Gilbert syndrome. J Gastroenterol Hepatol. 2016; 31 (2): 403–8. DOI: 10.1111/jgh.13071.
16. Ilchenko L. Yu., Fedorov I. G., Totolyan G. G., Tsvetkova A. G., Gavrilenko E. G., Mironov K. O., Nikitin I. G.. Hereditary unconjugated hyperbilirubinemia (combination of Crigler-Nayyar syndrome type II and Gilbert's syndrome). Hepatology and Gastroenterology. 2021; 5 (1): 79–84. https://doi.org/10.25298/2616–5546–2021–5–1–79–84
17. Joekim J. F., Veigas G. J., Bose N. M., Bhat R., Nayak R. K. Review on Gilbert’s Syndrome. Int. J. Pharm. Sci. Rev. Res. 2022. 75 (1): 109–112. https://doi.org/10.47583/ijpsrr.2022.v75i01.019
18. Reyzis A. R., Khokhlova O. N., Nikitina T. S. Gilbert's Syndrome: Current Insights, Outcomes and Therapies. Doctor.Ru, 2012; 71 (3): 42–45.
Review
For citations:
Levitan B.N., Skvortsov V.V., Morozov A.V., Serdyukova T.V. Modern view on pathogenesis, diagnosis and treatment of Gilbert's syndrome. Medical alphabet. 2022;(35):19-22. (In Russ.) https://doi.org/10.33667/2078-5631-2022-35-19-22
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